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  2. Hereditary Neuropathy_CMT - isolated
  3. DGAT2
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Hereditary Neuropathy_CMT - isolated

Gene: DGAT2

Amber List (moderate evidence)
DGAT2 (diacylglycerol O-acyltransferase 2)
EnsemblGeneIds (GRCh38): ENSG00000062282
EnsemblGeneIds (GRCh37): ENSG00000062282
OMIM: 606983, Gene2Phenotype
DGAT2 is in 2 panels

2 reviews

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

I don't know

Single family (father and son) reported, with supporting in vitro functional assays and a zebrafish model.
Sources: Expert Review
Created: 31 Mar 2020, 7:57 a.m.

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
axonal Charcot-Marie-Tooth disease

Publications

Created: 31 Mar 2020, 7:57 a.m.

Panel version: Imported from Mendeliome panel version 0.1874

Bryony Thompson (Royal Melbourne Hospital)

I don't know

Single family (father and son) reported, with supporting in vitro functional assays and a zebrafish model.
Created: 23 Mar 2020, 6 a.m. | Last Modified: 23 Mar 2020, 6 a.m.
Panel Version: 0.7

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
axonal Charcot-Marie-Tooth disease

Publications

Created: 23 Mar 2020, 6 a.m.
Last Modified: 23 Mar 2020, 6 a.m.
Panel version: 0.7

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Amber
  • Expert Review Amber
  • Expert Review
  • Royal Melbourne Hospital
Phenotypes
  • Charcot-Marie-Tooth disease, MONDO:0015626, DGAT2-related
OMIM
606983
Clinvar variants
Variants in DGAT2
Penetrance
None
Publications
Panels with this gene

History Filter Activity

2 Oct 2023, Gel status: 2

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: DGAT2 were changed from HMSN; Autosomal dominant Charcot-Marie-Tooth disease type 2 to Charcot-Marie-Tooth disease, MONDO:0015626, DGAT2-related

11 May 2021, Gel status: 2

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: dgat2 has been classified as Amber List (Moderate Evidence).

11 May 2021, Gel status: 2

Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Mode of inheritance for gene: DGAT2 was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

13 Jan 2020, Gel status: 2

Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes

Bryony Thompson (Royal Melbourne Hospital)

gene: DGAT2 was added gene: DGAT2 was added to Hereditary Neuropathy - isolated_RMH. Sources: Royal Melbourne Hospital,Expert Review Amber Mode of inheritance for gene: DGAT2 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: DGAT2 were set to 26786738 Phenotypes for gene: DGAT2 were set to HMSN; Autosomal dominant Charcot-Marie-Tooth disease type 2